AIM： To investigate the prevalence of the ATP7B gene mutation in patients with hepatic presentation of Wilson＇s disease （WD） in Lithuania. METHODS： Eleven unrelated Lithuanian families, including 13 WD patients w...AIM： To investigate the prevalence of the ATP7B gene mutation in patients with hepatic presentation of Wilson＇s disease （WD） in Lithuania. METHODS： Eleven unrelated Lithuanian families, including 13 WD patients were tested. Clinically WD diagnosis was established in accordance to the Leipzig scoring system. Genomic DNA was extracted from whole venous blood using a salt precipitation method. Firstly, the semi-nested polymerase chain reaction （PCR） technique was used to detect the c.3207C〉A （p.H1069Q） mutation. Patients not homozygous for the c.3207C〉A （p.H1069Q） mutation were further analyzed. The 21 exons of the WD gene were amplified in a thermal cycler （Biometra T3 Thermocycler, G0ttingen, Germany）. Direct sequencing of the amplified PCR products was performed by cycle sequencing using fluorescent dye terminators in an automatic sequencer （Applied Biosystems, Darmstadt, Germany）. RESULTS： Total of 13 WD patients （mean age 26.4 years; range 17-40; male/female 3/10） presented with hepatic disorders and 16 their first degree relatives （including 12 siblings） were studied. Some of WD patients, in addition to hepatic symptoms, have had extrahepatic disorders （hemolytic anemia 3; Fanconi syndrome 1; neurophsychiatric and behavioural disorder 2）. Liver biopsy specimens were available in all of 13 WD patients （8 had cirrhosis; 1-chronic hepatitis; 3-acute liver failure, 1-1iver steatosis）. Twelve of 13 （92.3%） WD patients had the c.3207C〉A （p.HI069Q） mutation, 6 of them in both chromosomes, 6 were presented as compound heterozygotes with additional c.3472-82delGGTTTAACCAT, c.3402delC, c.3121C〉T （p.RI041W） or unknown mutations. For one patient with liver cirrhosis and psychiatric disorder （Leipzig score 6）, no mutations were found. Out of 16 first degree WD relatives, 11 （68.7%） were heterozygous for the c.3207C〉A （p.H1069Q） mutation. Two patients with fulminant WD died from acute liver failure and ii are in full remission under peniciilamine or zinc acetate treatment. Three women with WD successfully delivered healthy babies. CONCLUSION： The c.3207C〉A （p.HI069Q） missense mutation is the most characteristic mutation for Lithuanian patients with WD. Even 92.3% of WD patients with hepatic presentation of the disease are homozygous or compound heterozygotes for the p.H1069Q mutation.展开更多
In the first part of this paper,we discuss some properties of S~Ω(K_n),L_p~Ω(K_n) and L_p~Ω(K^n;l_a) spaces,give the Plancherel-Polya-Nikol'skij type inequalities and some multipli- er theorems.In the second pa...In the first part of this paper,we discuss some properties of S~Ω(K_n),L_p~Ω(K_n) and L_p~Ω(K^n;l_a) spaces,give the Plancherel-Polya-Nikol'skij type inequalities and some multipli- er theorems.In the second part of this paper,using the results of Part I we prove some prelimi- nary results for the spaces B_(p,q)~s(K_n) and F_(p,q)~s(K_n).展开更多
Different function spaces have certain inclusion or equivalence relations. In this paper, the author introduces a class of Möbius-invariant Banach spaces QK,0 (p,q) of analytic function on the unit ball of Cn...Different function spaces have certain inclusion or equivalence relations. In this paper, the author introduces a class of Möbius-invariant Banach spaces QK,0 (p,q) of analytic function on the unit ball of Cn, where K:(0,∞)→[0,∞) are non-decreasing functions and 0P∞, p/2-n-1q∞, studies the inclusion relations between QK,0 (p,q) and a class of B0α spaces which was known before, and concludes that QK,0 (p,q) is a subspace of B0(q+n+1)/p, and the sufficient and necessary condition on kernel function K(r) such that QK,0 (p,q)= B0(q+n+1)/p.展开更多
基金The National Science and Education Foundation of Lithuania, No. M-06005
文摘AIM： To investigate the prevalence of the ATP7B gene mutation in patients with hepatic presentation of Wilson＇s disease （WD） in Lithuania. METHODS： Eleven unrelated Lithuanian families, including 13 WD patients were tested. Clinically WD diagnosis was established in accordance to the Leipzig scoring system. Genomic DNA was extracted from whole venous blood using a salt precipitation method. Firstly, the semi-nested polymerase chain reaction （PCR） technique was used to detect the c.3207C〉A （p.H1069Q） mutation. Patients not homozygous for the c.3207C〉A （p.H1069Q） mutation were further analyzed. The 21 exons of the WD gene were amplified in a thermal cycler （Biometra T3 Thermocycler, G0ttingen, Germany）. Direct sequencing of the amplified PCR products was performed by cycle sequencing using fluorescent dye terminators in an automatic sequencer （Applied Biosystems, Darmstadt, Germany）. RESULTS： Total of 13 WD patients （mean age 26.4 years; range 17-40; male/female 3/10） presented with hepatic disorders and 16 their first degree relatives （including 12 siblings） were studied. Some of WD patients, in addition to hepatic symptoms, have had extrahepatic disorders （hemolytic anemia 3; Fanconi syndrome 1; neurophsychiatric and behavioural disorder 2）. Liver biopsy specimens were available in all of 13 WD patients （8 had cirrhosis; 1-chronic hepatitis; 3-acute liver failure, 1-1iver steatosis）. Twelve of 13 （92.3%） WD patients had the c.3207C〉A （p.HI069Q） mutation, 6 of them in both chromosomes, 6 were presented as compound heterozygotes with additional c.3472-82delGGTTTAACCAT, c.3402delC, c.3121C〉T （p.RI041W） or unknown mutations. For one patient with liver cirrhosis and psychiatric disorder （Leipzig score 6）, no mutations were found. Out of 16 first degree WD relatives, 11 （68.7%） were heterozygous for the c.3207C〉A （p.H1069Q） mutation. Two patients with fulminant WD died from acute liver failure and ii are in full remission under peniciilamine or zinc acetate treatment. Three women with WD successfully delivered healthy babies. CONCLUSION： The c.3207C〉A （p.HI069Q） missense mutation is the most characteristic mutation for Lithuanian patients with WD. Even 92.3% of WD patients with hepatic presentation of the disease are homozygous or compound heterozygotes for the p.H1069Q mutation.
文摘In the first part of this paper,we discuss some properties of S~Ω(K_n),L_p~Ω(K_n) and L_p~Ω(K^n;l_a) spaces,give the Plancherel-Polya-Nikol'skij type inequalities and some multipli- er theorems.In the second part of this paper,using the results of Part I we prove some prelimi- nary results for the spaces B_(p,q)~s(K_n) and F_(p,q)~s(K_n).
文摘Different function spaces have certain inclusion or equivalence relations. In this paper, the author introduces a class of Möbius-invariant Banach spaces QK,0 (p,q) of analytic function on the unit ball of Cn, where K:(0,∞)→[0,∞) are non-decreasing functions and 0P∞, p/2-n-1q∞, studies the inclusion relations between QK,0 (p,q) and a class of B0α spaces which was known before, and concludes that QK,0 (p,q) is a subspace of B0(q+n+1)/p, and the sufficient and necessary condition on kernel function K(r) such that QK,0 (p,q)= B0(q+n+1)/p.
